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An application of the study of somatic mosaicism in the brain could be the tracing of specific brain cells. Indeed, if the somatic L1 insertions occurs in a progenitor cell, the unique variant could be used to trace the progenitor cell's development, localization, and spreading through the brain. On the contrary, if the somatic L1 insertion ...
Somatic mutations that occur later in an organism's life can be hard to detect, as they may affect only a single cell—for instance, a post-mitotic neuron; [3] [4] improvements in single cell sequencing are therefore an important tool for the study of somatic mutation. [5]
Somatic hypermutation (or SHM) is a cellular mechanism by which the immune system adapts to the new foreign elements that confront it (e.g. microbes).A major component of the process of affinity maturation, SHM diversifies B cell receptors used to recognize foreign elements and allows the immune system to adapt its response to new threats during the lifetime of an organism. [1]
Somatic recombination, as opposed to the genetic recombination that occurs in meiosis, is an alteration of the DNA of a somatic cell that is inherited by its daughter cells. The term is usually reserved for large-scale alterations of DNA such as chromosomal translocations and deletions and not applied to point mutations .
A change in the genetic structure that is not inherited from a parent, and also not passed to offspring, is called a somatic mutation. [89] Somatic mutations are not inherited by an organism's offspring because they do not affect the germline. However, they are passed down to all the progeny of a mutated cell within the same organism during ...
Neuroglycopenia is a shortage of glucose (glycopenia) in the brain, usually due to hypoglycemia. Glycopenia affects the function of neurons, and alters brain function and behavior. Prolonged or recurrent neuroglycopenia can result in loss of consciousness, damage to the brain, and eventual death. [1] [2] [3]
Curt Stern in 1935 assumed that the structural changes in the chromosomes took place as a result of somatic crossing, as a result of which mutations or small chromosomal rearrangements in somatic cells. Thus the inert region causes an increase in mutation frequency or small chromosomal rearrangements in active segments adjacent to inert regions.
MODY 2 or GCK-MODY is a form of maturity-onset diabetes of the young. [1] It is due to any of several mutations in the GCK gene on human chromosome 7 for glucokinase. [2] Glucokinase serves as the glucose sensor for the pancreatic beta cell. Normal glucokinase triggers insulin secretion as the glucose exceeds about 90 mg/dl (5 mM).